"Genome-Nilou Lab"[submitter] AND "MMAA"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1209641	NM_172250.3(MMAA):c.313A>G (p.Ile105Val)	MMAA (I105V)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 347601	NM_172250.3(MMAA):c.630A>G (p.Pro210=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type +2 more	GConflicting classifications of pathogenicity
Select item 933455	NM_172250.3(MMAA):c.940C>T (p.Arg314Cys)	MMAA (R314C)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type +1 more	GUncertain significance
Select item 1209642	NM_172250.3(MMAA):c.941G>A (p.Arg314His)	MMAA (R314H)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 1209643	NM_172250.3(MMAA):c.1055G>A (p.Ser352Asn)	MMAA (S352N)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 1029265	NM_172250.3(MMAA):c.1157G>A (p.Arg386Gln)	MMAA (R386Q)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GUncertain significance

ClinVar